Familial communication and cascade testing among relatives of BRCA population screening participants

Sari Lieberman, Amnon Lahad, Ariela Tomer, Sivan Koka, Malka BenUziyahu, Aviad Raz, Ephrat Levy-Lahad*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

67 Scopus citations


Purpose: Population BRCA1/BRCA2 screening identifies carriers irrespective of family history, yet this information is actionable for relatives. We examined familial communication rates and cascade testing in the screening setting and assessed sociodemographic and psychosocial predictors. Methods: Participants in a BRCA1/BRCA2 screening study of healthy Ashkenazi Jews self-administered a family communication questionnaire. Intent to communicate was determined before genetic status was known, along with result communication (carriers and noncarriers) 6 months and 2 years after enrollment. Carriers underwent in-depth interviews and provided cascade testing information. Results: In total, 88% (524/595) of questionnaire responders and 97% (30/32) of carriers informed at least one relative. In multivariate analysis, family history (P = 0.005) and greater Satisfaction With Health Decision scores (P < 0.001) predicted communication of results. Among carriers’ adult first- and second-degree relatives, 71 (48%) had cascade testing, more commonly performed in first- (58%) than in second-degree relatives (26%, P = 0.0002), and in females (56%) vs. males (36%, P = 0.02). At least 11% remained uninformed. Conclusion: Familial communication rates and characteristics in a screening setting parallel those reported by Cancer Genetics clinics. Universal screening circumvents dependence on familial disclosure. However, our finding that satisfaction—a potentially modifiable factor—predicts communication, raises the hypothesis that improving the testing experience could facilitate familial communication.

Original languageAmerican English
Pages (from-to)1446-1454
Number of pages9
JournalGenetics in Medicine
Issue number11
StatePublished - 1 Nov 2018

Bibliographical note

Publisher Copyright:
© 2018, American College of Medical Genetics and Genomics.


  • Ashkenazi Jews
  • BRCA1/2
  • cascade testing; familial communication
  • population screening


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